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Treacher-Collins综合症在整形外科临床上较少见，其病因亦不太明确。我们近年来遇到2例，系母子同病，看来疾病的成因与遗传有一定的关系。患儿xx，男，6岁。生下后即被发现其“面容难看”，要求整形改善面容。入院检查：发育、营养偏差，智力与同龄儿童相等，头颅面部呈倒三角形：即头颅顶部横径较宽，下颏部尖削呈鸟嘴状咬合。双侧下睑外三分之二缺损，内侧三分之一发育差，无睫毛。外眦部向外下倾斜，颧颊部明显塌陷。鼻额角缺失，右耳卷曲畸形。腭裂、唇裂已于一年前修补，术后语言鼻音重，吐字不清晰。
Treacher-Collins syndrome in plastic surgery clinically rare, the etiology is not clear. We have encountered two cases in recent years, the Department of maternal and child diseases, it seems the cause of the disease and genetic have a certain relationship. Children xx, male, 6 years old. After giving birth to be found that its “ugly face”, requiring plastic to improve the face. Admission examination: development, nutritional bias, intelligence and equal children of the same age, head and face were inverted triangle: the top of the skull wide diameter, pointed chin tip was beak-like bite. Two thirds of bilateral lower eyelid defects, one third of the medial poor development, no eyelashes. Outer canthus tilt outward, the zygomatic cheek significantly collapsed. Nose forehead missing, right ear curl deformity. Cleft palate, cleft lip was repaired a year ago, postoperative nasal weight, articulation is not clear.